Incidental Mutation 'IGL01077:Serpinb6b'
ID52537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6b
Ensembl Gene ENSMUSG00000042842
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 6b
SynonymsNK13, ovalbumin, Spi12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL01077
Quality Score
Status
Chromosome13
Chromosomal Location32965209-32979067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32978066 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 283 (D283N)
Ref Sequence ENSEMBL: ENSMUSP00000105922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017184] [ENSMUST00000110293] [ENSMUST00000164541]
Predicted Effect probably benign
Transcript: ENSMUST00000017184
SMART Domains Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842

DomainStartEndE-ValueType
SERPIN 13 208 1.22e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110293
AA Change: D283N

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: D283N

DomainStartEndE-ValueType
SERPIN 13 377 1.99e-174 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164541
AA Change: D164N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,057,410 probably benign Het
Arhgap4 A G X: 73,900,093 probably benign Het
Ascc3 T G 10: 50,649,317 probably benign Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Car10 T C 11: 93,597,143 I222T possibly damaging Het
Cep250 G A 2: 155,962,134 V55M probably damaging Het
Chst4 T A 8: 110,029,965 Y422F probably benign Het
Dnajc13 T C 9: 104,231,021 E185G probably benign Het
Dtx2 T A 5: 136,029,203 M454K possibly damaging Het
Flg2 T A 3: 93,220,206 S2142T unknown Het
Ganc C T 2: 120,446,515 T686M possibly damaging Het
Gm53 C T 11: 96,251,768 noncoding transcript Het
Gria3 T C X: 41,588,492 V254A possibly damaging Het
H2-DMb2 G T 17: 34,148,613 A3S probably damaging Het
H2-DMb2 A G 17: 34,147,720 Y42C probably damaging Het
Myzap T C 9: 71,546,760 E343G probably damaging Het
Nap1l2 T C X: 103,185,316 D332G probably benign Het
Npr1 T G 3: 90,458,362 D628A probably damaging Het
Raet1e T C 10: 22,181,320 L181S probably damaging Het
Rnf43 G T 11: 87,731,892 M606I probably benign Het
Skiv2l2 A T 13: 112,914,489 I184K probably damaging Het
Slit2 A G 5: 48,217,443 probably null Het
Supt5 C T 7: 28,323,788 W323* probably null Het
Svep1 T A 4: 58,068,760 I3009F possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tll1 T C 8: 64,070,232 Y482C probably benign Het
Trappc8 G A 18: 20,836,978 T985I probably benign Het
Zfp945 T C 17: 22,852,385 K180R probably damaging Het
Other mutations in Serpinb6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Serpinb6b APN 13 32971546 missense probably benign 0.01
IGL01553:Serpinb6b APN 13 32974948 missense probably damaging 1.00
IGL02981:Serpinb6b APN 13 32971606 missense probably benign 0.34
R0308:Serpinb6b UTSW 13 32978237 missense probably benign 0.09
R1568:Serpinb6b UTSW 13 32974912 missense probably damaging 1.00
R1692:Serpinb6b UTSW 13 32974995 missense probably damaging 1.00
R1763:Serpinb6b UTSW 13 32978058 missense probably damaging 1.00
R1917:Serpinb6b UTSW 13 32978240 missense probably benign
R1918:Serpinb6b UTSW 13 32978240 missense probably benign
R1919:Serpinb6b UTSW 13 32978240 missense probably benign
R1920:Serpinb6b UTSW 13 32975008 missense possibly damaging 0.47
R3032:Serpinb6b UTSW 13 32968568 missense possibly damaging 0.78
R4239:Serpinb6b UTSW 13 32972263 missense probably damaging 0.96
R5089:Serpinb6b UTSW 13 32978150 missense probably benign
R5503:Serpinb6b UTSW 13 32977659 missense possibly damaging 0.95
R5540:Serpinb6b UTSW 13 32977558 nonsense probably null
R6061:Serpinb6b UTSW 13 32977994 missense probably damaging 0.99
R6253:Serpinb6b UTSW 13 32972272 missense probably damaging 1.00
R7156:Serpinb6b UTSW 13 32971615 missense probably benign 0.09
R7248:Serpinb6b UTSW 13 32977576 missense probably benign 0.23
R7315:Serpinb6b UTSW 13 32972257 missense probably benign 0.41
R7424:Serpinb6b UTSW 13 32968667 missense probably damaging 0.99
R7547:Serpinb6b UTSW 13 32974924 missense probably benign 0.05
R7732:Serpinb6b UTSW 13 32968607 missense probably damaging 1.00
R7770:Serpinb6b UTSW 13 32977529 missense probably benign 0.05
R7802:Serpinb6b UTSW 13 32971596
Posted On2013-06-21